Works matching DE "GONADAL dysgenesis"

Results: 545

Infertility management in a patient with Swyer syndrome: a case report.

Published in:

Journal of Assisted Reproduction & Genetics, 2025, v. 42, n. 5, p. 1689, doi. 10.1007/s10815-025-03442-4

By:

Krygere, Laura;
Bartasiene, Ruta;
Kozlovskaja–Gumbriene, Agne;
Drejeriene, Egle

Publication type:

Article

A scarce case: Co-occurrence of neurofibromatosis type 1 and Klinefelter syndrome.

Published in:

Global Medical Genetics, 2025, v. 12, n. 1, p. 1, doi. 10.1016/j.gmg.2024.100004

By:

Kafshboran, Haniyeh Rahbar;
Akcan, Neşe;
Polat, Doğa Ceren;
Ergören, Mahmut Çerkez

Publication type:

Article

Rapid progression to Richter's syndrome in a patient with chronic lymphocytic leukemia and near-triploid karyotype.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2023, v. 80, n. 5, p. 454, doi. 10.2298/VSP211111060D

By:

Denčić-Fekete, Marija;
Terzić, Tatjana;
Jaković, Ljubomir;
Djurašinović, Vladislava;
Djurašević, Teodora Karan;
Radojković, Milica;
Pavlović, Sonja;
Bogdanović, Andrija

Publication type:

Article

Persistent Müllerian Duct Syndrome (PMDS): a Rare Anomaly the General Surgeon Must Know About.

Published in:

Indian Journal of Surgery, 2015, v. 77, n. 3, p. 217, doi. 10.1007/s12262-013-1029-7

By:

Agrawal, Aditi;
Kataria, Raman

Publication type:

Article

Novel Variant of the Desert Hedgehog Gene in an Indian Patient of 46, XY Gonadal Dysgenesis with Peripheral Neuropathy.

Published in:

Neurology India, 2025, v. 73, n. 2, p. 352, doi. 10.4103/neurol-india.Neurol-India-D-24-00093

By:

Srivastava, Kosha;
Baskar, Dipti;
Vengalil, Seena;
Nashi, Saraswati;
Menon, Deepak;
Ganji, Suma R.;
Sanka, Sai B.;
Polavarapu, Kiran;
Rao, Bhoomika M;
Arunachal, Gautham;
Nalini, Atchayaram

Publication type:

Article

Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 7, p. 1871, doi. 10.1007/s10815-021-02140-1

By:

Mehta, Poonam;
Singh, Priyamvada;
Gupta, Nalini J.;
Sankhwar, Satya Narayan;
Chakravarty, Baidyanath;
Thangaraj, Kumarasamy;
Rajender, Singh

Publication type:

Article

Frequency of Ambiguous Genitalia in 14,177 Newborns in Turkey.

Published in:

Journal of the Endocrine Society, 2019, v. 3, n. 6, p. 1185, doi. 10.1210/js.2018-00408

By:

Aydin, Banu Kucukemre;
Saka, Nurcin;
Bas, Firdevs;
Bas, Evrim Kiray;
Coban, Asuman;
Yildirim, Sukran;
Guran, Tulay;
Darendeliler, Feyza

Publication type:

Article

An odd 'ball' in an acquired undescended testis.

Published in:

ANZ Journal of Surgery, 2019, v. 89, n. 9, p. E392, doi. 10.1111/ans.14669

By:

Lee, Dominic

Publication type:

Article

Partial duplication of DHH causes minifascicular neuropathy.

Published in:

Annals of Clinical & Translational Neurology, 2017, v. 4, n. 6, p. 415, doi. 10.1002/acn3.417

By:

Sato, Naoko Saito;
Maekawa, Risa;
Ishiura, Hiroyuki;
Mitsui, Jun;
Naruse, Hiroya;
Tokushige, Shin‐ichi;
Sugie, Kazuma;
Tate, Genshu;
Shimizu, Jun;
Goto, Jun;
Tsuji, Shoji;
Shiio, Yasushi

Publication type:

Article

Varicocoele embolization with sclerosing agents leads to lower radiation exposure and procedural costs than coils: Data from a real‐life before and after study.

Published in:

Andrology, 2022, v. 10, n. 4, p. 694, doi. 10.1111/andr.13162

By:

Boeri, Luca;
Fulgheri, Irene;
Cristina, Marco;
Biondetti, Pierpaolo;
Rossi, Silvia;
Grimaldi, Elena;
Lucignani, Gianpaolo;
Gadda, Franco;
Ierardi, Anna Maria;
Salonia, Andrea;
Viganò, Paola;
Somigliana, Edgardo;
Carrafiello, Gianpaolo;
Montanari, Emanuele

Publication type:

Article

DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis.

Published in:

Life (2075-1729), 2023, v. 13, n. 5, p. 1093, doi. 10.3390/life13051093

By:

de Oliveira, Felipe Rodrigues;
Mazzola, Taís Nitsch;
de Mello, Maricilda Palandi;
Francese-Santos, Ana Paula;
Lemos-Marini, Sofia Helena V. de;
Maciel-Guerra, Andrea Trevas;
Hiort, Olaf;
Werner, Ralf;
Guerra-Junior, Gil;
Fabbri-Scallet, Helena

Publication type:

Article

Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14).

Published in:

Case Reports in Endocrinology, 2018, p. 1, doi. 10.1155/2018/3796415

By:

Latrech, Hanane;
Madar, Houssein;
Gaouzi, Ahmed

Publication type:

Article

Opioid-induced hypogonadism in opioid use disorder, its role in negative reinforcement, and implications for treatment and retention.

Published in:

American Journal of Drug & Alcohol Abuse, 2024, v. 50, n. 2, p. 132, doi. 10.1080/00952990.2023.2292012

By:

McGuirt, Avery F.;
Brezing, Christina A.

Publication type:

Article

Resistance to Thyroid Hormone Beta: A Focused Review.

Published in:

Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2021.656551

By:

Pappa, Theodora;
Refetoff, Samuel

Publication type:

Article

Development and Validation of a Prediction Rule for Growth Hormone Deficiency Without Need for Pharmacological Stimulation Tests in Children With Risk Factors.

Published in:

Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2020.624684

By:

Clément, Florencia;
Grinspon, Romina P.;
Yankelevich, Daniel;
Martín Benítez, Sabrina;
De La Ossa Salgado, María Carolina;
Ropelato, María Gabriela;
Ballerini, María Gabriela;
Keselman, Ana C.;
Braslavsky, Débora;
Pennisi, Patricia;
Bergadá, Ignacio;
Finkielstain, Gabriela P.;
Rey, Rodolfo A.

Publication type:

Article

Diversity of P-element piRNA production among M' and Q strains and its association with P-M hybrid dysgenesis in Drosophila melanogaster.

Published in:

Mobile DNA, 2017, v. 8, p. 1, doi. 10.1186/s13100-017-0096-x

By:

Keiko Tsuji Wakisaka;
Kenji Ichiyanagi;
Seiko Ohno;
Masanobu Itoh

Publication type:

Article

Cytogenetic Analysis of Referral Cases with Growth Failure and Clinical Suspicion of having Chromosomal Abnormality.

Published in:

Iranian Journal of Pathology, 2013, v. 8, n. 2, p. 104

By:

Safaei, Akbar;
Farzaneh, Mohamad Reza;
Noori, Sadat

Publication type:

Article

Postchemotherapy sarcoma as a somatic-type malignancy derived from the gonadal yolk sac tumor in a patient with 46, XY pure gonadal dysgenesis.

Published in:

OncoTargets & Therapy, 2019, v. 12, p. 2365, doi. 10.2147/OTT.S192111

By:

Zong, Xuan;
Yang, Jia-Xin;
Zhang, Ying;
Cao, Dong-Yan;
Shen, Keng;
You, Yan;
Guo, Li-Na

Publication type:

Article

Septo-optic dysplasia with amniotic band syndrome sequence: a case report.

Published in:

2019

By:

Amiji, Insiyah A.;
Mohamed, Ummulkheir H.;
Rutashobya, Adelina G.;
Mngoya, Mariam;
Schoenmann, Nicole;
Naburi, Helga E.;
Manji, Karim P.

Publication type:

journal article

Disorders of sex development and female reproductive capacity: A literature review.

Published in:

Systems Biology in Reproductive Medicine, 2021, v. 67, n. 5, p. 323, doi. 10.1080/19396368.2021.1937376

By:

Hosseinirad, Hossein;
Yadegari, Pouya;
Mohanazadeh Falahieh, Fatemeh;
Nouraei, Soheila;
Paktinat, Shahrokh;
Afsharzadeh, Nousha;
Sadeghi, Yousef

Publication type:

Article

Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective.

Published in:

Systems Biology in Reproductive Medicine, 2019, v. 65, n. 2, p. 105, doi. 10.1080/19396368.2018.1549619

By:

Nagaraja, MR;
Gubbala, Satya Prakash;
Delphine Silvia, C. R. Wilma;
Amanchy, Ramars

Publication type:

Article

A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome.

Published in:

Systems Biology in Reproductive Medicine, 2016, v. 62, n. 1, p. 77, doi. 10.3109/19396368.2015.1109007

By:

Kalkan, Rasime;
Özdağ, Nermin;
Bundak, Rüveyde;
Çirakoğlu, Ayşe;
Serakinci, Nedime

Publication type:

Article

Distúrbio da diferenciação sexual testicular XX: relato de caso.

Published in:

Einstein (16794508), 2011, v. 9, n. 3, p. 394, doi. 10.1590/s1679-45082011rc1862

By:

Bianco, Bianca;
Christofolini, Denise Maria;
Ghersel, Frederico Rezende;
Gava, Marcello Machado;
Barbosa, Caio Parente

Publication type:

Article

Trends in evolution of the Rhodniini tribe (Hemiptera, Triatominae): experimental crosses between Psammolestes tertius Lent & Jurberg, 1965 and P. coreodes Bergroth, 1911 and analysis of the reproductive isolating mechanisms.

Published in:

Parasites & Vectors, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13071-021-04854-8

By:

Ravazi, Amanda;
de Oliveira, Jader;
Campos, Fabricio Ferreria;
Madeira, Fernanda Fernandez;
dos Reis, Yago Visinho;
de Oliveira, Ana Beatriz Bortolozo;
de Azeredo-Oliveira, Maria Tercília Vilela;
da Rosa, João Aristeu;
Galvão, Cleber;
Alevi, Kaio Cesar Chaboli

Publication type:

Article

Trends in evolution of the Rhodniini tribe (Hemiptera, Triatominae): experimental crosses between Psammolestes tertius Lent & Jurberg, 1965 and P. coreodes Bergroth, 1911 and analysis of the reproductive isolating mechanisms.

Published in:

Parasites & Vectors, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13071-021-04854-8

By:

Ravazi, Amanda;
de Oliveira, Jader;
Campos, Fabricio Ferreria;
Madeira, Fernanda Fernandez;
dos Reis, Yago Visinho;
de Oliveira, Ana Beatriz Bortolozo;
de Azeredo-Oliveira, Maria Tercília Vilela;
da Rosa, João Aristeu;
Galvão, Cleber;
Alevi, Kaio Cesar Chaboli

Publication type:

Article

Clinical and radiological presentation of familial Mayer-Rokitansky Küster-Hauser syndrome in three sisters with literature review.

Published in:

Middle East Fertility Society Journal, 2022, v. 27, n. 1, p. 1, doi. 10.1186/s43043-022-00122-6

By:

Qudsieh, Hana';
Qudsieh, Suhair;
Mwafi, Nesrin

Publication type:

Article

Regional ventilation/perfusion mismatch pattern in patient with Swyer James (MacLeod's) syndrome.

Published in:

Journal of Research in Medical Sciences, 2014, v. 19, n. 9, p. 904

By:

Sager, Sait;
Asa, Sertac;
Akyel, Reşit;
Atahan, Ersan;
Kanmaz, Bedii

Publication type:

Article

Robotic Excision of the Vagina in a 46 XX DSD Male Patient. First Pediatric Report.

Published in:

2021

By:

Torino, Giovanni;
Adorisio, Ottavio;
Cobellis, Giovanni;
Mariscoli, Francesca;
Zaccara, Antonio

Publication type:

journal article

A rare case of Turner's syndrome presenting with Mullerian agenesis.

Published in:

Journal of Human Reproductive Sciences, 2013, v. 6, n. 4, p. 277, doi. 10.4103/0974-1208.126313

By:

Vaddadi, Suresh;
Murthy, Ramana S. V.;
Rahul, C. H.;
Kumar, Vinod L.

Publication type:

Article

Cytogenetic evaluation of patients with clinical spectrum of Turner syndrome.

Published in:

Journal of Human Reproductive Sciences, 2013, v. 6, n. 2, p. 129, doi. 10.4103/0974-1208.117177

By:

Moka, Rajasekhar;
Sreelakshmi, Kodandapani;
Gopinath, Puthiya Mundyat;
Satyamoorthy, Kapettu

Publication type:

Article

A rare cause for primary amenorrhoea.

Published in:

Journal of Human Reproductive Sciences, 2012, v. 5, n. 2, p. 218, doi. 10.4103/0974-1208.101026

By:

Ameen, Kaderthambi Hajamohideen Noorul;
Pinninti, Rakesh

Publication type:

Article

Mixed gonadal dysgenesis in Yaoundé: A preliminary experience about three cases.

Published in:

2016

By:

Tambo, F. F. Mouafo;
Dahoun, S.;
Kamadjou, C.;
Makon, A. S. Nwaha;
Fossi, G.;
Andze, O. G.;
Sosso, M. A.;
Mure, P. Y.;
Mouafo Tambo, F F;
Nwaha Makon, A S

Publication type:

journal article

Associated leukemia and mixed germ cell tumor in a patient with gonadal dysgenesis.

Published in:

1991

By:

Kaplan, S.S.;
Bornstein, S.G.;
Christopherson, W.A.;
Surti, U.

Publication type:

journal article

Estrogen treatment and subsequent pregnancy in two patients with severe hypergonadotropic ovarian failure.

Published in:

1988

By:

Varma, T.R.;
Patel, R.H.

Publication type:

journal article

Hormonal and cytogenetic studies in phenotypically female patients with gonadal dysgenesis.

Published in:

1981

By:

Muechler, Eberhard K.;
Cary, Donna;
Friedrich, Mary Anna;
Doherty, Richard A.;
Donaldson, Catherine H.;
Bonfiglio, Thomas;
Muechler, E K;
Cary, D;
Friedrich, M A;
Doherty, R A;
Donaldson, C H;
Bonfiglio, T

Publication type:

journal article

Mixed gonadal dysgenesis with an ovotestis on imaging mimicking ovotesticular disorder of sexual differentiation.

Published in:

Baylor University Medical Center Proceedings, 2021, v. 34, n. 6, p. 739, doi. 10.1080/08998280.2021.1951052

By:

Fine, Samantha;
Ford IV, Kenneth;
Trotter, Bradley;
Le, Hoang-Kim;
Crisp, Matthew;
Santiago, Jose;
Birkemeier, Krista

Publication type:

Article

Discordant results about QT prolongation in patients with Turner syndrome.

Published in:

2018

By:

Keskin, Berhan;
Uslu, Abdülkadir;
Bezgin, Tahir

Publication type:

Letter to the Editor

Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.

Published in:

2008

By:

Kim, Chan Jong;
Lin, Lin;
Huang, Ningwu;
Quigley, Charmian A;
AvRuskin, Theodore W;
Achermann, John C;
Miller, Walter L

Publication type:

journal article

Hepatoid Carcinoma of the Ovary: Clinical, Histopathologic, and Immunophenotypic Features.

Published in:

Archives of Pathology & Laboratory Medicine, 2019, v. 143, n. 7, p. 883, doi. 10.5858/arpa.2017-0485-RS

By:

Acosta, Andres M.;
Pins, Michael R.

Publication type:

Article

Reproductive and obstetric outcomes in mosaic Turner's Syndrome: a cross-sectional study and review of the literature.

Published in:

Reproductive Biology & Endocrinology, 2015, v. 13, n. 1, p. 1, doi. 10.1186/s12958-015-0055-7

By:

Doğer, Emek;
Çakiroğlu, Yiğit;
Ceylan, Yasin;
Ulak, Esen;
Özdamar, Özkan;
Çalişkan, Eray

Publication type:

Article

Small-scale transcriptomics reveals differences among gonadal stages in Asian seabass (Lates calcarifer).

Published in:

Reproductive Biology & Endocrinology, 2014, v. 12, n. 1, p. 1, doi. 10.1186/1477-7827-12-5

By:

Ravi, Preethi;
Junhui Jiang;
Woei Chang Liew;
Orbán, László

Publication type:

Article

46 XY Gonodal Dysgenesis.

Published in:

European Journal of General Medicine, 2012, v. 9, n. 4, p. 292, doi. 10.29333/ejgm/82451

By:

Akyürek, Nesibe;
Emre Atabek, Mehmet;
Eklioğlu, Beray Selver;
Yuca, Sevil Arı

Publication type:

Article

A case report of bladder and intestinal endometriosis, and the relationship between sex hormone receptor expression and PIK3CA mutation analysis.

Published in:

2021

By:

Kanto, Akiko;
Kotani, Yasushi;
Murakami, Kosuke;
Miyagawa, Chiho;
Nakai, Hidekatsu;
Matsumura, Noriomi

Publication type:

journal article

Winter syndrome: about an uncommon case report.

Published in:

2020

By:

Slaoui, Aziz;
Talib, Sarah;
Kallali, Abdelali;
Rouijel, Mariem;
Baydada, Aziz

Publication type:

journal article

Heterotaxy Syndrome with Increased Nuchal Translucency and Normal Karyotype Associated with Complex Systemic Venous Return. Ultrasound Diagnosis with Autopsy Correlation.

Published in:

2022

By:

Tonni, Gabriele;
Bonasoni, Maria Paola;
Grisolia, Gianpaolo;
Bellotti, Maria;
Araujo Júnior, Edward

Publication type:

Case Study

Prenatal Diagnosis of Fetal Trisomy 5 Mosaicism with Congenital Pulmonary Airway Malformation Type 3: A Case Report.

Published in:

2022

By:

Bonasoni, Maria Paola;
Comitini, Giuseppina;
Tonni, Gabriele;
Asioli, Silvia;
Barbieri, Veronica;
Rinaldini, Monia;
Marinelli, Maria

Publication type:

Case Study

Reproductive biology of the planktonic copepod Temora stylifera.

Published in:

Marine Biology, 1989, v. 101, n. 2, p. 187, doi. 10.1007/BF00391457

By:

Ianora, A.;
Scotto di Carlo, B.;
Mascellaro, P.

Publication type:

Article

SWYER SYNDROME WITH A GERM CELL TUMOUR.

Published in:

Journal of Medical Sciences (1997-3438), 2021, v. 29, n. 4, p. 295

By:

Wahab, Samdana;
Kareem, Rabia

Publication type:

Article

XY gonadal dysgenesis - development of a germ cell tumor: case report.

Published in:

European Journal of Gynaecological Oncology, 2013, v. 34, n. 6, p. 572

By:

Diessner, J.;
Stuber, T.;
Niederle, B.;
Pawlik, M.;
Dietl, J.;
Honig, A.

Publication type:

Article

46, XY Complete Gonadal Dysgenesis (Swyer Syndrome) Presenting as Primary Amenorrhea in a Normomorphic Adult Female From Kakamega, Kenya.

Published in:

2025

By:

Omoaghe, Christian

Publication type:

Case Study